Canonical Allele Identifier: CA117868
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 5935
ClinVar RCV Id: RCV000006298
dbSNP Id: rs104893730

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190404786T>G , CM000665.2:g.190404786T>G GRCh38
NC_000003.11:g.190122575T>G , CM000665.1:g.190122575T>G GRCh37
NC_000003.10:g.191605269T>G NCBI36
NG_008149.1:g.21735T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264734.3:c.242T>G MANE Select ENSP00000264734.3:p.Leu81Trp
ENST00000456423.2:c.115-5117T>G ENSP00000414136.2:n.115-5117T>G
ENST00000264734.2:c.452T>G ENSP00000264734.2:p.Leu151Trp
ENST00000456423.1:c.325-5117T>G ENSP00000414136.1:n.325-5117T>G
ENST00000468220.1:n.434T>G
NM_006580.3:c.452T>G NP_006571.1:p.Leu151Trp
NM_001378492.1:c.242T>G NP_001365421.1:p.Leu81Trp
NM_001378493.1:c.242T>G NP_001365422.1:p.Leu81Trp
NM_006580.4:c.242T>G MANE Select NP_006571.2:p.Leu81Trp